Incidental Mutation 'R1808:Sh3tc1'
| ID |
203590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3tc1
|
| Ensembl Gene |
ENSMUSG00000036553 |
| Gene Name |
SH3 domain and tetratricopeptide repeats 1 |
| Synonyms |
|
| MMRRC Submission |
039837-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R1808 (G1)
|
| Quality Score |
148 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
35854524-35897331 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35863268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 973
(Q973R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070203]
[ENSMUST00000129664]
[ENSMUST00000201511]
|
| AlphaFold |
G3X9F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070203
AA Change: Q973R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: Q973R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
278 |
N/A |
INTRINSIC |
|
SH3
|
312 |
371 |
1.72e-6 |
SMART |
|
low complexity region
|
381 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
552 |
N/A |
INTRINSIC |
|
TPR
|
565 |
598 |
3.41e1 |
SMART |
|
Blast:TPR
|
607 |
639 |
2e-6 |
BLAST |
|
TPR
|
668 |
701 |
3.37e-2 |
SMART |
|
TPR
|
796 |
829 |
6.4e1 |
SMART |
|
Blast:TPR
|
874 |
902 |
2e-6 |
BLAST |
|
TPR
|
913 |
946 |
9.99e1 |
SMART |
|
TPR
|
1202 |
1235 |
4.31e0 |
SMART |
|
low complexity region
|
1266 |
1277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127288
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000127825
AA Change: Q911R
|
| SMART Domains |
Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: Q911R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
217 |
N/A |
INTRINSIC |
|
SH3
|
251 |
310 |
1.72e-6 |
SMART |
|
low complexity region
|
320 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
491 |
N/A |
INTRINSIC |
|
TPR
|
504 |
537 |
3.41e1 |
SMART |
|
Blast:TPR
|
546 |
578 |
2e-6 |
BLAST |
|
TPR
|
607 |
640 |
3.37e-2 |
SMART |
|
TPR
|
735 |
768 |
6.4e1 |
SMART |
|
Blast:TPR
|
813 |
841 |
2e-6 |
BLAST |
|
TPR
|
852 |
885 |
9.99e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129664
|
| SMART Domains |
Protein: ENSMUSP00000119811
Gene: ENSMUSG00000036553
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
42 |
N/A |
INTRINSIC |
|
SH3
|
76 |
130 |
2.41e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151555
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201511
AA Change: Q973R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: Q973R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
278 |
N/A |
INTRINSIC |
|
SH3
|
312 |
371 |
1.72e-6 |
SMART |
|
low complexity region
|
381 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
552 |
N/A |
INTRINSIC |
|
TPR
|
565 |
598 |
3.41e1 |
SMART |
|
Blast:TPR
|
607 |
639 |
2e-6 |
BLAST |
|
TPR
|
668 |
701 |
3.37e-2 |
SMART |
|
TPR
|
796 |
829 |
6.4e1 |
SMART |
|
Blast:TPR
|
874 |
902 |
2e-6 |
BLAST |
|
TPR
|
913 |
946 |
9.99e1 |
SMART |
|
TPR
|
1202 |
1235 |
4.31e0 |
SMART |
|
low complexity region
|
1266 |
1277 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
G |
T |
5: 146,121,691 (GRCm39) |
Y69* |
probably null |
Het |
| 2310011J03Rik |
A |
G |
10: 80,156,015 (GRCm39) |
|
probably null |
Het |
| A2ml1 |
A |
C |
6: 128,520,262 (GRCm39) |
D1367E |
probably damaging |
Het |
| Adam6a |
C |
G |
12: 113,508,334 (GRCm39) |
L236V |
probably benign |
Het |
| Arf3 |
T |
C |
15: 98,638,954 (GRCm39) |
N101S |
probably benign |
Het |
| Arhgap42 |
T |
C |
9: 9,180,051 (GRCm39) |
E76G |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,052,573 (GRCm39) |
F382S |
probably damaging |
Het |
| Bud13 |
T |
A |
9: 46,199,705 (GRCm39) |
F355L |
probably benign |
Het |
| C2 |
G |
A |
17: 35,083,508 (GRCm39) |
P349S |
probably damaging |
Het |
| Cbl |
C |
A |
9: 44,075,526 (GRCm39) |
G373V |
probably damaging |
Het |
| Ccdc3 |
T |
A |
2: 5,142,896 (GRCm39) |
L51Q |
probably damaging |
Het |
| Ccdc34 |
T |
A |
2: 109,874,601 (GRCm39) |
M320K |
probably benign |
Het |
| Cntln |
A |
G |
4: 85,015,000 (GRCm39) |
E1097G |
probably damaging |
Het |
| Ctsc |
A |
C |
7: 87,948,750 (GRCm39) |
K195Q |
possibly damaging |
Het |
| Ctsf |
C |
T |
19: 4,906,562 (GRCm39) |
P163L |
probably benign |
Het |
| Dcxr |
A |
T |
11: 120,616,438 (GRCm39) |
|
probably null |
Het |
| Dgki |
T |
C |
6: 37,126,509 (GRCm39) |
E157G |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,903,160 (GRCm39) |
L933P |
probably damaging |
Het |
| Dtna |
T |
C |
18: 23,702,697 (GRCm39) |
L76P |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,784,515 (GRCm39) |
C192S |
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,916,137 (GRCm39) |
D683E |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,143 (GRCm39) |
A1297T |
probably benign |
Het |
| Grik4 |
T |
C |
9: 42,540,322 (GRCm39) |
N286S |
probably benign |
Het |
| Hrc |
A |
T |
7: 44,986,202 (GRCm39) |
E451V |
probably damaging |
Het |
| Hrh3 |
G |
A |
2: 179,741,577 (GRCm39) |
|
probably benign |
Het |
| Ints13 |
A |
G |
6: 146,455,695 (GRCm39) |
I152T |
probably damaging |
Het |
| Irgm1 |
A |
T |
11: 48,757,259 (GRCm39) |
V184D |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,258,826 (GRCm39) |
A791T |
probably damaging |
Het |
| Kcp |
T |
C |
6: 29,505,654 (GRCm39) |
T73A |
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,053,008 (GRCm39) |
T433A |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Kmt2d |
T |
C |
15: 98,764,567 (GRCm39) |
D12G |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,954,698 (GRCm39) |
S74P |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,102,300 (GRCm39) |
E864* |
probably null |
Het |
| Nek1 |
A |
G |
8: 61,469,264 (GRCm39) |
D107G |
probably damaging |
Het |
| Npc1 |
T |
C |
18: 12,327,149 (GRCm39) |
N1149D |
probably damaging |
Het |
| Or14j6 |
T |
A |
17: 38,214,661 (GRCm39) |
S75T |
probably damaging |
Het |
| Or3a1b |
C |
A |
11: 74,012,257 (GRCm39) |
S47R |
probably damaging |
Het |
| Or4k36 |
T |
C |
2: 111,146,343 (GRCm39) |
V173A |
probably benign |
Het |
| Or5p79 |
A |
C |
7: 108,221,817 (GRCm39) |
K266T |
possibly damaging |
Het |
| Osbp |
T |
C |
19: 11,948,142 (GRCm39) |
S150P |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,096,247 (GRCm39) |
Y287H |
probably damaging |
Het |
| Pdgfrb |
T |
C |
18: 61,201,174 (GRCm39) |
V420A |
probably benign |
Het |
| Pdss1 |
G |
T |
2: 22,796,846 (GRCm39) |
E120* |
probably null |
Het |
| Pink1 |
A |
T |
4: 138,044,630 (GRCm39) |
V339E |
probably damaging |
Het |
| Pkn3 |
C |
T |
2: 29,969,663 (GRCm39) |
R58C |
probably damaging |
Het |
| Pm20d1 |
G |
A |
1: 131,730,165 (GRCm39) |
V235I |
probably benign |
Het |
| Ppp2r2a |
A |
G |
14: 67,276,412 (GRCm39) |
I31T |
probably damaging |
Het |
| Rbms3 |
T |
C |
9: 116,651,894 (GRCm39) |
E152G |
probably damaging |
Het |
| Rfx1 |
A |
C |
8: 84,821,677 (GRCm39) |
Q804H |
probably damaging |
Het |
| Rpe |
G |
T |
1: 66,754,356 (GRCm39) |
V143L |
probably benign |
Het |
| Sap30l |
G |
T |
11: 57,700,771 (GRCm39) |
V142L |
probably benign |
Het |
| Slc10a2 |
T |
C |
8: 5,154,856 (GRCm39) |
T110A |
probably damaging |
Het |
| Snrnp200 |
A |
T |
2: 127,060,947 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
G |
A |
2: 127,060,948 (GRCm39) |
|
probably null |
Het |
| Spaca3 |
T |
A |
11: 80,758,511 (GRCm39) |
V158E |
probably damaging |
Het |
| Sprtn |
C |
A |
8: 125,629,770 (GRCm39) |
N354K |
probably benign |
Het |
| Stab1 |
T |
A |
14: 30,863,101 (GRCm39) |
Y2166F |
possibly damaging |
Het |
| Tmem106c |
G |
A |
15: 97,866,548 (GRCm39) |
|
probably null |
Het |
| Tnc |
A |
G |
4: 63,918,168 (GRCm39) |
S1248P |
probably damaging |
Het |
| Tshr |
T |
C |
12: 91,504,090 (GRCm39) |
F343L |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,555,698 (GRCm39) |
A30436S |
probably damaging |
Het |
| Ubxn2a |
A |
T |
12: 4,935,839 (GRCm39) |
M68K |
probably benign |
Het |
| Ucp2 |
T |
C |
7: 100,148,021 (GRCm39) |
V238A |
probably damaging |
Het |
| Urgcp |
C |
A |
11: 5,667,242 (GRCm39) |
L365F |
probably damaging |
Het |
| Vezt |
A |
T |
10: 93,826,026 (GRCm39) |
D328E |
probably damaging |
Het |
| Vmn1r168 |
G |
T |
7: 23,240,184 (GRCm39) |
V14L |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,792,205 (GRCm39) |
F2158L |
probably benign |
Het |
|
| Other mutations in Sh3tc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Sh3tc1
|
APN |
5 |
35,868,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01019:Sh3tc1
|
APN |
5 |
35,860,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01725:Sh3tc1
|
APN |
5 |
35,857,660 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02069:Sh3tc1
|
APN |
5 |
35,876,339 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02153:Sh3tc1
|
APN |
5 |
35,860,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02269:Sh3tc1
|
APN |
5 |
35,863,628 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02609:Sh3tc1
|
APN |
5 |
35,864,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02984:Sh3tc1
|
UTSW |
5 |
35,871,403 (GRCm39) |
splice site |
probably null |
|
|
R0280:Sh3tc1
|
UTSW |
5 |
35,863,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0305:Sh3tc1
|
UTSW |
5 |
35,881,343 (GRCm39) |
missense |
probably benign |
|
|
R0322:Sh3tc1
|
UTSW |
5 |
35,863,905 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0485:Sh3tc1
|
UTSW |
5 |
35,859,356 (GRCm39) |
splice site |
probably benign |
|
|
R0511:Sh3tc1
|
UTSW |
5 |
35,860,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Sh3tc1
|
UTSW |
5 |
35,857,651 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0523:Sh3tc1
|
UTSW |
5 |
35,881,410 (GRCm39) |
small deletion |
probably benign |
|
|
R0550:Sh3tc1
|
UTSW |
5 |
35,857,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0676:Sh3tc1
|
UTSW |
5 |
35,876,458 (GRCm39) |
splice site |
probably benign |
|
|
R1485:Sh3tc1
|
UTSW |
5 |
35,876,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1559:Sh3tc1
|
UTSW |
5 |
35,860,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1599:Sh3tc1
|
UTSW |
5 |
35,864,856 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1759:Sh3tc1
|
UTSW |
5 |
35,863,248 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1816:Sh3tc1
|
UTSW |
5 |
35,857,928 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2036:Sh3tc1
|
UTSW |
5 |
35,873,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2092:Sh3tc1
|
UTSW |
5 |
35,858,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2944:Sh3tc1
|
UTSW |
5 |
35,871,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4258:Sh3tc1
|
UTSW |
5 |
35,864,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4556:Sh3tc1
|
UTSW |
5 |
35,864,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Sh3tc1
|
UTSW |
5 |
35,863,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Sh3tc1
|
UTSW |
5 |
35,857,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5740:Sh3tc1
|
UTSW |
5 |
35,864,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6023:Sh3tc1
|
UTSW |
5 |
35,864,295 (GRCm39) |
nonsense |
probably null |
|
|
R6164:Sh3tc1
|
UTSW |
5 |
35,863,590 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6262:Sh3tc1
|
UTSW |
5 |
35,857,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Sh3tc1
|
UTSW |
5 |
35,863,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6932:Sh3tc1
|
UTSW |
5 |
35,864,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6986:Sh3tc1
|
UTSW |
5 |
35,881,288 (GRCm39) |
missense |
probably benign |
|
|
R7098:Sh3tc1
|
UTSW |
5 |
35,859,358 (GRCm39) |
splice site |
probably null |
|
|
R7502:Sh3tc1
|
UTSW |
5 |
35,863,406 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7737:Sh3tc1
|
UTSW |
5 |
35,881,297 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7792:Sh3tc1
|
UTSW |
5 |
35,868,295 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8079:Sh3tc1
|
UTSW |
5 |
35,864,201 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8154:Sh3tc1
|
UTSW |
5 |
35,875,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8267:Sh3tc1
|
UTSW |
5 |
35,863,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8300:Sh3tc1
|
UTSW |
5 |
35,854,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8416:Sh3tc1
|
UTSW |
5 |
35,868,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8459:Sh3tc1
|
UTSW |
5 |
35,878,933 (GRCm39) |
missense |
probably benign |
|
|
R8699:Sh3tc1
|
UTSW |
5 |
35,859,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Sh3tc1
|
UTSW |
5 |
35,863,802 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8782:Sh3tc1
|
UTSW |
5 |
35,871,548 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9044:Sh3tc1
|
UTSW |
5 |
35,854,834 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9047:Sh3tc1
|
UTSW |
5 |
35,863,827 (GRCm39) |
missense |
probably benign |
|
|
R9092:Sh3tc1
|
UTSW |
5 |
35,874,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9771:Sh3tc1
|
UTSW |
5 |
35,873,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0061:Sh3tc1
|
UTSW |
5 |
35,864,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Sh3tc1
|
UTSW |
5 |
35,871,573 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCCAGGTTTCCATGACTCAG -3'
(R):5'- AGTGGTCCTGGCTAACTTTG -3'
Sequencing Primer
(F):5'- CTCAGTGGGAGGTCTCTGTCC -3'
(R):5'- TCCTGGCTAACTTTGGGGCC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation